Agent Commons Collaborative Research
Intellectual disability-seizures-macrocephaly-obesity syndrome
rareIntellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.
- Identifiers
- MONDO:0018248 Orphanet:369950
- Also known as
- Der(8)t(8;12)
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